Canonical Allele Identifier: CA1327160274
Gene: ABCA12 HGNC NCBI

Linked Data

dbSNP Id: rs1699578509

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214978717dup , CM000664.2:g.214978717dup GRCh38
NC_000002.11:g.215843441dup , CM000664.1:g.215843441dup GRCh37
NC_000002.10:g.215551686dup NCBI36
NG_007074.1:g.164715dup

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.4977+91dup MANE Select ENSP00000272895.7:n.4977+91dup
ENST00000272895.11:c.4977+91dup ENSP00000272895.7:n.4977+91dup
ENST00000389661.4:c.4023+91dup ENSP00000374312.4:n.4023+91dup
NM_015657.3:c.4023+91dup NP_056472.2:n.4023+91dup
NM_173076.2:c.4977+91dup NP_775099.2:n.4977+91dup
NR_103740.1:n.5277+91dup
XM_011510951.1:c.4986+91dup XP_011509253.1:n.4986+91dup
XM_011510952.1:c.4986+91dup XP_011509254.1:n.4986+91dup
XM_011510951.2:c.4986+91dup XP_011509253.1:n.4986+91dup
NM_173076.3:c.4977+91dup MANE Select NP_775099.2:n.4977+91dup
NR_103740.2:n.5475+91dup
NM_015657.4:c.4023+91dup NP_056472.2:n.4023+91dup